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Endophenotypes
In 1973, professor of psychology Irving Gottesman and his colleague, James Shields, introduced the term endophenotype into human psychiatric genetic research as a result of their groundbreaking research studying schizophrenia in twins and families. Their work centered on identifying behavioral characteristics that occurred as a result of genetics. Endo refers to the concept of “within” or “internal.” Thus, endophenotype embodies a measurable, behavioral characteristic clearly associated with a genetic condition. This entry discusses the different natures of enophenotypes, as well as past and current research concerning them.
Genotypes and Phenotypes
A genome is akin to an individual’s set of instructions or personal programming code, which determines at a cellular level exactly who that individual is. An early distinction in genetic research was the difference between genotype ...
- Assessment and Diagnosis
- Diagnostic and Statistical Manual of Mental Disorders
- International Classification of Diseases, 10th Revision
- International Classification of Diseases, History of
- Academic Achievement Tests
- Adaptive Behavior Assessment System
- Adults With Autism Spectrum Disorder
- Assessment of the Very Young Child
- Attention-Deficit/Hyperactivity Disorder: Assessment of Children With
- Autism Diagnostic Interview-Revised
- Autism Diagnostic Observation Schedule
- Autism Rating Scales
- Autism Spectrum Disorder: Assessment in Schools
- Autism Spectrum Disorder: Assessment of Adults With
- Autism Spectrum Disorder: Assessment of Comorbid Psychiatric Conditions
- Autism Spectrum Disorder: Assessment of Social Behavior
- Autism Spectrum Disorder: Assessment of Speech, Language, and Communication Disorders in
- Autism Spectrum Disorder: School Consultation
- Autism Spectrum Rating Scales
- Bayley Scales of Infant and Toddler Development
- Behavior Checklists
- Child Behavior Checklist
- Chromosomal Microarray
- Cognitive Assessment System
- Comprehensive Executive Functioning Inventory
- Continuous Performance Tests
- Developmental Interview
- Diagnostic Reading Assessment
- Differential Ability Scales
- Dyslexia: Assessment
- Executive Function Tests
- Expressive Language Tests
- Eye Tracking
- Floortime
- Functional Behavioral Analysis
- Genetic Counseling
- Giftedness
- Infant Visual Attention and Response to Novelty
- Intellectual Disability, Assessment of Adults With
- Intellectual Disability, Assessment of Children With
- Intelligence: IQ Scores
- Intelligence-Achievement Discrepancy
- Labeling, Pros and Cons of
- Magnetic Resonance Imaging
- Mental Status Examination
- Mullen Scales of Early Learning
- Neuroimaging Methods
- Neurological Examination
- Neuropsychological Assessment
- Newborn Screening
- Noninvasive Brain Stimulation
- Nonverbal Assessment of Intelligence
- Processing Speed
- Psychological Testing
- Receptive Language Tests
- Stanford-Binet Intelligence Scales
- Structured Interviews
- Testing for Prenatal Birth Defects
- Vineland Adaptive Behavior Scales
- Wechsler Adult Intelligence Scale
- Wechsler Individual Achievement Test
- Wechsler Intelligence Scale for Children
- Wechsler Preschool and Primary Scale of Intelligence
- Whole Genome Sequencing
- Woodcock-Johnson Tests of Achievement
- Woodcock-Johnson Tests of Cognitive Abilities
- Written Expression, Tests of
- Comorbidity and Associated Features
- Aggression
- Alcohol Abuse in Individuals With Intellectual and Developmental Disabilities
- Allergies
- Aphasia
- Apraxia
- Blindness
- Cleft Lip and Cleft Palate
- Deafness and Hearing Loss
- Depressogenic Conditions
- Diagnostic Overshadowing
- Dual Diagnosis
- Echolalia
- Empathy
- Encopresis
- Enuresis
- Executive Functioning
- Fine Motor Delays
- Gross Motor Delay
- Hyperkinesis
- Hypertonia and Hypotonia
- Infantile Automatisms
- Joint Attention
- Mania
- Munchausen by Proxy
- Nonepileptic Stress Induced Seizures
- Obesity
- Obsessions and Compulsions
- Otitis Media
- Panic Attacks
- Peer Rejection
- Perseveration
- Phobias
- Pica
- Pragmatics
- Psychosis
- Regression
- Repetitive Behaviors and Interests
- Resilience, Learning Disorders and
- Seizures
- Self-Injury
- Self-Stimulatory Behaviors
- Sensory Integration Issues
- Sexual Abuse
- Sexual Exploitation
- Sexualized Behavior
- Siblings of Individuals With Developmental Disorders
- Sleep Disorders
- Social Anxiety
- Social Skills Deficits
- Stereotypy
- Stuttering
- Substance Use
- Suicide
- Trauma
- Development
- Adolescence
- Cognitive Development
- Developmental Milestones
- Early Childhood Development
- Elementary School-Aged Children With Intellectual and Developmental Disabilities
- Emotional Development
- Fine Motor Development
- Gross Motor Development
- Infancy
- Intelligence: Environmental Factors
- Memory
- Metacognition
- Moral Development
- Nature and Nurture
- Neurobiology of Developmental Disabilities
- Phenotype
- Piaget’s Theory of Cognitive Development
- Preschool Intellectual and Developmental Disorders
- Readiness Skills
- Self-Regulation
- Social Cognition
- Social Skills
- Speech and Language Development
- Temperament
- Theory of Mind
- Transitional Age Youth
- Visual Motor Coordination
- Visual Spatial Skills
- Developmental and Intellectual Disorders
- 16p11.2 Deletion and Duplication Syndromes
- 18p Deletion Syndrome
- 22q11.2 Deletion Syndrome
- Acute Disseminated Encephalomyelitis
- Adrenoleukodystrophy and Other Leukodystrophies
- Agenesis of the Corpus Callosum
- Alice in Wonderland Syndrome
- Asperger Syndrome
- Autism Spectrum Disorder
- Cerebral Palsy
- Childhood Disintegrative Disorder
- Chromosome 15 Disorders
- Cornelia de Lange Syndrome
- Cri-du-Chat Syndrome
- Dandy-Walker Syndrome
- Down Syndrome
- Epilepsy
- Failure to Thrive
- Fetal Alcohol Spectrum Disorders
- Fragile X Syndrome
- Global Developmental Delay
- Intellectual Disability
- Intellectual Disability, Abuse and
- Intellectual Disability: Comorbidity
- Intellectual Disability: Development and Outcome
- Intellectual Disability: Mild
- Intellectual Disability: Moderate
- Intellectual Disability: Severe and Profound
- Klinefelter Syndrome
- Landau-Kleffner Syndrome
- Learning Disorders: Relationship to Other Neurodevelopmental Disorders
- Mitochondrial Disorders
- Multiple Sclerosis
- Muscular Dystrophies
- Neonatal Abstinence Syndrome
- Neurofibromatosis
- Noonan Syndrome
- Patau Syndrome
- Pitt-Hopkins Syndrome
- Prader–Willi Syndrome
- Rett Syndrome
- Rubinstein-Taybi Syndrome
- Shaken Baby Syndrome
- Smith-Magenis Syndrome
- Spina Bifida
- Stroke, Prenatal
- Strokes, Perinatal and Pediatric
- Sturge-Weber Syndrome
- Subacute Sclerosing Panencephalitis
- Triple X Syndrome
- Trisomy
- Tuberous Sclerosis
- Turner Syndrome
- Williams Syndrome
- Wilson’s Disease
- Education
- 504 Plan
- Accommodations
- Adult Literacy
- American Sign Language
- Autism Spectrum Disorder: School Consultation
- Camp Shriver
- Case Management and Care Coordination
- Early Childhood Education for Students With Developmental Disabilities
- Early Intervention
- Early Start Denver Model
- Educational Advocacy
- Elementary Education for Students With Developmental Disabilities
- Employment for Individuals With Autism Spectrum Disorder
- Employment for Individuals With Intellectual Disabilities
- Families as Partners in Educational Decision Making
- Free Appropriate Public Education
- Future Research Directions in Developmental Disabilities
- Head Start Programs
- Homeschooling
- Homework
- Inclusion
- Individualized Education Program
- Individualized Family Service Plan
- Individuals with Disabilities Education Act
- Infant Stimulation Programs
- Intelligence: IQ Scores
- Job Coaching
- Learning Disorders: Relationship to Other Neurodevelopmental Disorders
- Least Restrictive Environment, Current Practices in
- Life Skills Coaching
- Mainstreaming, Current Practices in
- Mentoring
- Multidisciplinary Approaches to Teaching Students With Developmental Disabilities
- Online Learning
- Peer Tutoring
- Physical Activity and Children and Youth With Intellectual and Developmental Disabilities
- Portage Project
- Positive Behavior Support and Developmental Disabilities
- Postsecondary Education for Students With Disabilities
- Program Evaluation
- Readiness Skills
- Reading Programs: Teaching Students With Intellectual Disabilities and Moderate-to-Severe Reading Disabilities
- Regular Education Initiative
- Secondary Education for Students With Developmental Disabilities
- Section 504 and the Education of Children With Disabilities
- Self-Contained Classrooms
- Social Skills Groups for Individuals With Autism Spectrum Disorders
- Special Education
- Support Groups for Adults With Intellectual and Developmental Disabilities
- Support Groups for Families of Children With Developmental Disorders
- Supportive Employment
- Technology for Individuals With Intellectual and Developmental Disabilities
- Technology-Enhanced Learning
- Universal Design for Learning
- Gender, Culture, and Ethnicity
- Larry P. v. Riles
- Bilingualism
- Cultural Differences in Discipline
- Cultural Norms
- Culturally Sensitive Assessment
- Famous People With Intellectual and Developmental Disabilities
- Gender Differences
- Intelligence Tests, Effect of Culture and Ethnicity on
- International Perspectives on Developmental Disabilities
- Maltreatment of Persons With Intellectual Disabilities
- Media Portrayals of Individuals With Developmental Disabilities
- Parenting Style
- People-First Language
- Race and Ethnicity
- Stigma
- Student–Teacher Relationships
- Health, Wellness, and Resiliency
- Activities of Daily Living
- Allergies
- Bullying
- Commercial Sexual Exploitation of Children
- Dating and Close Relationships
- Emotional Abuse
- Employment for Individuals With Autism Spectrum Disorder
- Employment for Individuals With Intellectual Disabilities
- End-of-Life Care
- Estate Planning
- Family Impact in Adulthood
- Friendships
- Funding Services for Adults With Developmental Disabilities and Autism Spectrum Disorder
- Giftedness
- Health Promotion
- Health-Related Disorders
- Identity Development
- Intellectual Disability: Prevention
- Learned Helplessness
- Life Skills
- Lifespan Developmental Theories
- Long-Term Supports and Services
- Parental Adaptation
- Parental Stress
- Partnering With Refugees With Intellectual and Developmental Disabilities and Their Families
- Peer Acceptance
- Physical Abuse
- Physical Activity and Children and Youth With Intellectual and Developmental Disabilities
- Prevention of Intellectual and Developmental Disabilities
- Protective Factors
- Quality of Life
- Resilience, Characteristics of
- Respite Care
- Self-Esteem
- Sexual Awareness and Knowledge
- Sexual Development, Physical
- Sexuality in Autism Spectrum Disorder
- Sexuality in Children and Adolescents With Developmental Disorders
- Sexuality in Intellectual Disabilities
- Social Support
- Special Olympics
- Splinter Skills and Cognitive Strengths in Autism
- Sports
- Stress and Coping
- Supported Living
- TEACCH
- Transitional Age Youth
- Vaccinations and Autism
- Historical Views of Intelligence and Development
- Diagnostic and Statistical Manual of Mental Disorders
- International Classification of Diseases, 10th Revision
- International Classification of Diseases, History of
- Autism and Autism Spectrum Disorders, History of
- Civil Rights of Institutionalized Persons Act
- Crystallized Intelligence
- Deinstitutionalization
- Disability Rights Movement
- Education for All Handicapped Children Act
- Epidemiology, Historical Changes in
- Eugenics Movement
- Fluid Intelligence
- Flynn Effect
- Head Start, History of
- Intellectual Disability, History of
- Intelligence, Historical Views of
- Least Restrictive Environment, History of
- Mainstreaming, History of
- Special Education, History of
- Learning, Psychological, and Behavioral Disorders
- Adjustment Disorders
- Attention-Deficit/Hyperactivity Disorder
- Bipolar Disorder
- Conduct Disorder
- Depression
- Developmental Coordination Disorder
- Developmental Dyscalculia
- Disorders of Elimination
- Disruptive Behavior Disorders
- Disruptive Mood Dysregulation Disorder
- Dysgraphia
- Dyslexia
- Dyslexia: Treatment
- Eating Disorders
- Feeding Disorders of Infancy or Childhood
- Generalized Anxiety Disorder
- Language Disorders
- Learning Disorders
- Nonverbal Learning Disability
- Obsessive-Compulsive Disorder
- Oppositional Defiant Disorder
- Panic Attacks
- Panic Disorder
- Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections
- Posttraumatic and Acute Stress Disorders
- Rumination Syndrome
- Schizophrenia, Adult Onset
- Schizophrenia, Early Onset
- School Refusal
- Selective Mutism
- Separation Anxiety Disorder
- Social (Pragmatic) Communication Disorder
- Social Anxiety
- Specific Phobia
- Speech Sound Disorder
- Tic Disorders
- Tourette’s Disorder
- Public Policy Issues
- Larry P. v. Riles
- Americans with Disabilities Act
- Arc of the United States, The
- Article 12 of the Convention on the Rights of Persons with Disabilities
- Camp Shriver
- Classroom Aides
- Conservatorship
- Council for Exceptional Children
- Death Penalty and Intellectual Disability
- Decision-Making Capacity
- Dispute Resolution
- Down Syndrome: Cognitive, Emotional, and Behavioral Presentation
- Down Syndrome: Medical Concerns and Comorbid Disorders
- Education for All Handicapped Children Act
- Ethical Issues in Education
- Ethical Issues in Research, Current Standards in
- Ethical Issues in Research, History of
- Ethical Issues in Treatment
- Federal Funding for Children With Intellectual and Developmental Disabilities
- Financial Abuse
- Free Appropriate Public Education
- Funding Services for Adults With Developmental Disabilities and Autism Spectrum Disorder
- Guardianship
- Inclusion
- Labeling, Impact of
- Labeling, Pros and Cons of
- Section 504 and the Education of Children With Disabilities
- Special Education Law: U.S. Supreme Court Cases
- Research
- Consent in Research and Treatment
- Disability Research Methodology
- Epidemiology
- Familial Aggregation Studies
- Flynn Effect
- Future Research Directions in Developmental Disabilities
- Genetic Research
- Longitudinal Research
- Multiple Baseline Design
- Naturalistic Observation
- Randomized Controlled Trials
- Single Case Research Design
- Treatment Intervention
- Theories and Causes: Biological Perspectives
- Acquired Pediatric Brain Damage
- Anoxia
- Autism Spectrum Disorder, Biology of
- Basal Ganglia
- Birth Defects
- Brain Plasticity
- Brain Tumors, Pediatric
- Brainstem
- Central Nervous System
- Cerebellum
- Cerebral Cortex
- Cingulate Cortex
- Cognitive Neuroscience of Intelligence
- Concussion
- Corpus Callosum
- Cross Disorder Genetic Risk
- Developmental Psychopathology
- Down Syndrome: Medical Concerns and Comorbid Disorders
- Encephalitis
- Endophenotypes
- Failure to Thrive
- Frontal Lobes
- Genetics of Intellectual Development
- Hemispheric Asymmetries
- Herpes Simplex
- Hormones
- Human Genome Project
- Hydrocephalus
- Iatrogenic Effects
- Intellectual Disability, Biology of
- Lead Poisoning
- Learning Disorders, Biology of
- Limbic System
- Maternal Substance Abuse
- Media Use by Individuals With Intellectual and Developmental Disabilities
- Meningitis
- Microcephaly
- Monogenic Disorders
- Mosaicism
- Myelination and Connectivity
- Neural Plasticity
- Neuroimaging Methods
- Neurotransmitters
- Nutrition in Childhood and Adolescence
- Nutrition, Prenatal
- Nutrition: Importance in First Years of Life
- Polygenic Risk
- Postnatal Risk Factors
- Prenatal Risk Factors
- Preterm Birth
- Rubella
- Temporal Lobe
- Teratogens
- Theories and Causes: Psychological and Sociocultural Perspectives
- Attachment Theory
- Autism, Rising Prevalence of: Epidemiology
- Autism, Rising Prevalence of: Theories
- Disability Discrimination: U.S. Supreme Court Cases
- Down Syndrome: Cognitive, Emotional, and Behavioral Presentation
- Ecological Systems Theory
- Environmental Considerations in Social Participation of Children With Developmental Disabilities
- Environmental Risk Factors
- Erikson’s Theory of Psychosocial Development
- Gardner’s Theory of Multiple Intelligences
- Intelligence, Theories of
- Intelligence: Environmental Factors
- Piaget’s Theory of Cognitive Development
- Vulnerability Stress Model
- Vygotsky’s Zone of Proximal Development
- Therapies and Interventions
- Access to Treatment for Individuals With Intellectual and Developmental Disabilities
- Accessible Design
- Adaptive Functioning
- Anchored Instruction
- Applied Behavior Analysis
- Art Therapy
- Assistive Technology
- Attention-Deficit/Hyperactivity Disorder: Potential Misuse of Stimulant Medications
- Augmentative and Alternative Communication
- Behavior Modification
- Behavior Therapy
- Biofeedback
- Braille, Use in Individuals With Visual Impairment
- Classroom Aides
- Cognitive Behavioral Therapy
- Cognitive Rehabilitation Training
- Community-Based Interventions
- Consent in Research and Treatment
- Dementia
- Dementia and Aging in Down Syndrome
- Discrete Trial Training
- Early Intervention
- Early Start Denver Model
- Executive Function Coaching
- Extinction
- Family-Based Interventions
- Flooding
- Floortime
- Functional Inclusion
- Intellectual Disability: Historical Changes in Terminology
- Male Brain Theory of Autism
- Mentoring
- Metacognitive Training
- Mindfulness-Based Treatments
- Mood Stabilizers
- Music Therapy
- Nutritional Therapies for Children With Developmental Disabilities
- Occupational Therapy
- Parent–Child Interaction Therapy
- Personalized Supports
- Phonics-Based Interventions
- Physical Therapy
- Picture Exchange Communication System
- Pivotal Response Therapy
- Portage Project
- Positive Parenting of Children With Intellectual and Developmental Disabilities
- Prenatal Care
- Probiotics
- Psychopharmacological Interventions
- Relationship Development Intervention
- Social Inclusion
- Speech and Language Pathologists
- Stimulant Medications
- Systematic Desensitization
- Technology for Individuals With Intellectual and Developmental Disabilities
- Treatment Planning
- UCLA Young Autism Project
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